A Novel Likely Pathogenic Variant in the RUNX1 Gene as the Cause of Congenital Thrombocytopenia.

Introduction: Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the RUNX1 gene. Case report: A one-month-old male infant was admitted to the Clinical Hospital Center Rijeka because of anemia and thrombocytopenia verified in the course of an acute viral infection. During follow-up, he occasionally had petechiae and ecchymoses on the lower extremities after mild trauma, with no other symptoms. The patient had persistent slightly decreased values of platelets with normal morphology, but with pathological aggregation with adrenaline and adenosine diphosphate. Due to the unclear etiology of persistent mild thrombocytopenia, he was referred for genetic testing at the age of five. Genomic DNA was isolated from the patient's peripheral blood and whole-exome sequencing was performed using the next-generation sequencing method. A heterozygous frameshift variant, c.1160delG (NM_001754.4), was identified in exon 9. The variant is classified as likely pathogenic. Conclusion: To the best of our knowledge, the heterozygous variant c.1160delG in the RUNX1 gene was first described in our patient. Although pathogenic variants in the RUNX1 genes are very rare, persistently low platelet counts of unclear etiology should raise suspicion of an underlying genetic disorder.

Observation of the Radiative Decays of ϒ(1S) to χ_{c1}.

We report the first observation of the radiative decay of the ϒ(1S) into a charmonium state. The significance of the observed signal of ϒ(1S)→γχ_{c1} is 6.3 standard deviations including systematics. The branching fraction is calculated to be B[ϒ(1S)→γχ_{c1}]=[4.7_{-1.8}^{+2.4}(stat)_{-0.5}^{+0.4}(sys)×10^{-5}]. We also searched for ϒ(1S) radiative decays into χ_{c0,2} and η_{c}(1S,2S), and set upper limits on their branching fractions. These results are obtained from a 24.9 fb^{-1} data sample collected with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider at a center-of-mass energy equal to the ϒ(2S) mass using ϒ(1S) tagging by the ϒ(2S)→ϒ(1S)π^{+}π^{-} transitions.

Observation of D

We report the first observation of the radiative charm decay D^{0}→ρ^{0}γ and the first search for CP violation in decays D^{0}→ρ^{0}γ, ϕγ, and K[over ¯]^{*0}(892)γ, using a data sample of 943 fb^{-1} collected with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider. The branching fraction is measured to be B(D^{0}→ρ^{0}γ)=(1.77±0.30±0.07)×10^{-5}, where the first uncertainty is statistical and the second is systematic. The obtained CP asymmetries A_{CP}(D^{0}→ρ^{0}γ)=+0.056±0.152±0.006, A_{CP}(D^{0}→ϕγ)=-0.094±0.066±0.001, and A_{CP}(D^{0}→K[over ¯]^{*0}γ)=-0.003±0.020±0.000 are consistent with no CP violation. We also present an improved measurement of the branching fractions B(D^{0}→ϕγ)=(2.76±0.19±0.10)×10^{-5} and B(D^{0}→K[over ¯]^{*0}γ)=(4.66±0.21±0.21)×10^{-4}.

Evidence for Isospin Violation and Measurement of CP Asymmetries in B→K

We report the first evidence for isospin violation in B→K^{*}γ and the first measurement of the difference of CP asymmetries between B^{+}→K^{*+}γ and B^{0}→K^{*0}γ. This analysis is based on the data sample containing 772×10^{6}BB[over ¯] pairs that was collected with the Belle detector at the KEKB energy-asymmetric e^{+}e^{-} collider. We find evidence for the isospin violation with a significance of 3.1σ, Δ_{0+}=[+6.2±1.5(stat)±0.6(syst)±1.2(f_{+-}/f_{00})]%, where the third uncertainty is due to the uncertainty on the fraction of B^{+}B^{-} to B^{0}B[over ¯]^{0} production in ϒ(4S) decays. The measured value is consistent with predictions of the standard model. The result for the difference of CP asymmetries is ΔA_{CP}=[+2.4±2.8(stat)±0.5(syst)]%, consistent with zero. The measured branching fractions and CP asymmetries for charged and neutral B meson decays are the most precise to date. We also calculate the ratio of branching fractions of B^{0}→K^{*0}γ to B_{s}^{0}→ϕγ.

Energy Scan of the e

Using data collected with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider, we measure the energy dependence of the e^{+}e^{-}→h_{b}(nP)π^{+}π^{-} (n=1, 2) cross sections from thresholds up to 11.02 GeV. We find clear ϒ(10860) and ϒ(11020) peaks with little or no continuum contribution. We study the resonant substructure of the ϒ(11020)→h_{b}(nP)π^{+}π^{-} transitions and find evidence that they proceed entirely via the intermediate isovector states Z_{b}(10610) and Z_{b}(10650). The relative fraction of these states is loosely constrained by the current data: The hypothesis that only Z_{b}(10610) is produced is excluded at the level of 3.3 standard deviations, while the hypothesis that only Z_{b}(10650) is produced is not excluded at a significant level.

Observation of Z_{b}(10610) and Z_{b}(10650) Decaying to B Mesons.

We report the analysis of the three-body e^{+}e^{-}→BB[over ¯]π^{±}, BB[over ¯]^{*}π^{±}, and B^{*}B[over ¯]^{*}π^{±} processes, including the first observations of the Z_{b}^{±}(10610)→[BB[over ¯]^{*}+c.c.]^{±} and Z_{b}^{±}(10650)→[B^{*}B[over ¯]^{*}]^{±} transitions that are found to dominate the corresponding final states. We measure Born cross sections for the three-body production of σ(e^{+}e^{-}→[BB[over ¯]^{*}+c.c.]^{±}π^{∓})=[17.4±1.6(stat)±1.9(syst)] pb and σ(e^{+}e^{-}→[B^{*}B[over ¯]^{*}]^{±}π^{∓})=[8.75±1.15(stat)±1.04(syst)] pb and set a 90% C.L. upper limit of σ(e^{+}e^{-}→[BB[over ¯]]^{±}π^{∓})<2.9 pb. The results are based on a 121.4 fb^{-1} data sample collected with the Belle detector at a center-of-mass energy near the ϒ(10860) peak.

First Observation of the Hadronic Transition ϒ(4S)→ηh(b)(1P) and New Measurement of the h(b)(1P) and η(b)(1S) Parameters.

Using a sample of 771.6×10(6) ϒϒ(4S) decays collected by the Belle experiment at the KEKB e(+)e(-) collider, we observe, for the first time, the transition ϒ(4S)→ηh(b)(1P) with the branching fraction B[ϒ(4S)→ηh(b)(1P)]=(2.18±0.11±0.18)×10(-3) and we measure the h(b)(1P) mass M(h(b)(1P))=(9899.3±0.4±1.0) MeV/c(2), corresponding to the hyperfine (HF) splitting ΔM(HF)(1P)=(0.6±0.4±1.0) MeV/c(2). Using the transition h(b)(1P)→γη(b)(1S), we measure the η(b)(1S) mass M(η(b)(1S))=(9400.7±1.7±1.6) MeV/c(2), corresponding to ΔM(HF)(1S)=(59.6±1.7±1.6) MeV/c(2), the η(b)(1S) width Γ(η(b)(1S))=(8(-5)(+6)±5) MeV/c(2) and the branching fraction B[h(b)(1P)→γη(b)(1S)]=(56±8±4)%.

Search for the dark photon and the dark Higgs boson at belle.

The dark photon A^{'} and the dark Higgs boson h^{'} are hypothetical constituents featured in a number of recently proposed dark sector models. Assuming prompt decays of both dark particles, we search for their production in the so-called Higgstrahlung channel e^{+}e^{-}→A^{'}h^{'}, with h^{'}→A^{'}A^{'}. We investigate ten exclusive final states with A^{'}→e^{+}e^{-}, µ^{+}µ^{-}, or π^{+}π^{-} in the mass ranges 0.1 GeV/c^{2}

Observation of D0-D0 mixing in e+e- collisions.

We observe D(0)-D(0) mixing in the decay D(0) → K+π- using a data sample of integrated luminosity 976 fb(-1) collected with the Belle detector at the KEKB e+e- asymmetric-energy collider. We measure the mixing parameters x'(2) = (0.09 ± 0.22) × 10(-3) and y'=(4.6 ± 3.4) × 10(-3) and the ratio of doubly Cabibbo-suppressed to Cabibbo-favored decay rates R(D) = (3.53 ± 0.13) × 10(-3), where the uncertainties are statistical and systematic combined. Our measurement excludes the no-mixing hypothesis at the 5.1 standard deviation level.

Measurement of the τ-lepton lifetime at Belle.

The lifetime of the τ lepton is measured using the process e+ e- → τ+ τ- , where both τ leptons decay to 3πν(τ). The result for the mean lifetime, based on 711 fb(-1) of data collected with the Belle detector at the ϒ(4S) resonance and 60 MeV below, is τ=(290.17±0.53(stat)±0.33(syst))×10(-15) s. The first measurement of the lifetime difference between τ+ and τ- is performed. The upper limit on the relative lifetime difference between positive and negative τ leptons is |Δτ|/τ<7.0×10(-3) at 90% C.L.

Measurement of the branching fraction B(Λc+ → pK-π+).

We present the first model-independent measurement of the absolute branching fraction of the Λ(c)(+) → pK(-)π(+) decay using a data sample of 978 fb(-1) collected with the Belle detector at the KEKB asymmetric-energy e(+)e(-) collider. The number of Λ(c)(+) baryons is determined by reconstructing the recoiling D((*)-) pπ(+) system in events of the type e(+)e(-) → D((*)-) pπ(+)Λ(c)(+). The branching fraction is measured to be B(Λ(c)(+) → pK(-)π(+)) = (6.84 ± 0.24(-0.27)(+0.21))%, where the first and second uncertainties are statistical and systematic, respectively.

Difference in direct charge-parity violation between charged and neutral B meson decays.

Equal amounts of matter and antimatter are predicted to have been produced in the Big Bang, but our observable Universe is clearly matter-dominated. One of the prerequisites for understanding this elimination of antimatter is the nonconservation of charge-parity (CP) symmetry. So far, two types of CP violation have been observed in the neutral K meson (K(0)) and B meson (B(0)) systems: CP violation involving the mixing between K(0) and its antiparticle (and likewise for B(0) and ), and direct CP violation in the decay of each meson. The observed effects for both types of CP violation are substantially larger for the B(0) meson system. However, they are still consistent with the standard model of particle physics, which has a unique source of CP violation that is known to be too small to account for the matter-dominated Universe. Here we report that the direct CP violation in charged B(+/-)-->K(+/-)pi(0) decay is different from that in the neutral B(0) counterpart. The direct CP-violating decay rate asymmetry, (that is, the difference between the number of observed B(-)-->K(-)pi(0) event versus B(+)-->K(+) pi(0) events, normalized to the sum of these events) is measured to be about +7%, with an uncertainty that is reduced by a factor of 1.7 from a previous measurement. However, the asymmetry for versus B(0)-->K(+)pi(-) is at the -10% level. Although it is susceptible to strong interaction effects that need further clarification, this large deviation in direct CP violation between charged and neutral B meson decays could be an indication of new sources of CP violation-which would help to explain the dominance of matter in the Universe.

Precision measurement of charged pion and kaon differential cross sections in e+ e- annihilation at sqrt[s]=10.52 GeV.

Measurements of inclusive differential cross sections for charged pion and kaon production in e+ e- annihilation have been carried out at a center-of-mass energy of sqrt[s]=10.52 GeV. The measurements were performed with the Belle detector at the KEKB e+ e- collider using a data sample containing 113×10(6) e+ e- → qq events, where q={u,d,s,c}. We present charge-integrated differential cross sections dσ(h±)/dz for h±={π±,K±} as a function of the relative hadron energy z=2E(h)/sqrt[s] from 0.2 to 0.98. The combined statistical and systematic uncertainties for π± (K±) are 4% (4%) at z∼0.6 and 15% (24%) at z∼0.9. The cross sections are the first measurements of the z dependence of pion and kaon production for z>0.7 as well as the first precision cross section measurements at a center-of-mass energy far below the Z0 resonance used by the experiments at LEP and SLC.

Search for bottomonium states in exclusive radiative Υ(2S) decays.

We search for bottomonium states in Υ(2S) → (bb)γ decays with an integrated luminosity of 24.7 fb(-1) recorded at the Υ(2S) resonance with the Belle detector at KEK, containing (157.8±3.6)×10(6) Υ(2S) events. The (bb) system is reconstructed in 26 exclusive hadronic final states composed of charged pions, kaons, protons, and K(S)(0) mesons. We find no evidence for the state recently observed around 9975 MeV (X(bb)) in an analysis based on a data sample of 9.3×10(6) Υ(2S) events collected with the CLEO III detector. We set a 90% confidence level upper limit on the branching fraction B[Υ(2S) → X(bb)γ] × ∑(i)B[X(bb) → h(i)] < 4.9×10(-6), summed over the exclusive hadronic final states employed in our analysis. This result is an order of magnitude smaller than the measurement reported with CLEO data. We also set an upper limit for the ηb(1S) state of B[Υ(2S) → ηb(1S)γ] × ∑(i)B[ηb(1S) → h(i)] < 3.7×10(-6).

Evidence for B- → τ- ν(τ) with a hadronic tagging method using the full data sample of Belle.

We measure the branching fraction of B- → τ- ν(τ) using the full Υ(4S) data sample containing 772×10(6) BB pairs collected with the Belle detector at the KEKB asymmetric-energy e+ e- collider. Events with BB pairs are tagged by reconstructing one of the B mesons decaying into hadronic final states, and B- → τ- ν(τ) candidates are detected in the recoil. We find evidence for B- → τ- ν(τ) with a significance of 3.0 standard deviations including systematic errors and measure a branching fraction B(B- → τ- ν(τ))=[0.72(-0.25)(+0.27)(stat)±0.11(syst)]×10(-4).

Evidence of a new narrow resonance decaying to χ(c1)γ in B→χ(c1)γK.

We report measurements of B→χ(c1)γK and χ(c2)γK decays using 772×10(6) BB[over ¯] events collected at the Υ(4S) resonance with the Belle detector at the KEKB asymmetric-energy e(+)e(-) collider. Evidence of a new resonance in the χ(c1)γ final state is found with a statistical significance of 3.8σ. This state has a mass of 3823.1±1.8(stat)±0.7(syst) MeV/c(2), a value that is consistent with theoretical expectations for the previously unseen 1(3)D(2) cc[over ¯] meson. We find no other narrow resonance and set upper limits on the branching fractions of the X(3872)→χ(c1)γ and χ(c2)γ decays.

First observation of the P-wave spin-singlet bottomonium states hb(1P) and hb(2P).

We report the first observations of the spin-singlet bottomonium states h(b)(1P) and h(b)(2P). The states are produced in the reaction e(+)e(-)→h(b)(nP)π(+)π(-) using a 121.4 fb(-1) data sample collected at energies near the Υ(5S) resonance with the Belle detector at the KEKB asymmetric-energy e(+)e(-) collider. We determine M[h(b)(1P)]=(9898.2(-1.0-1.1)(+1.1+1.0)) MeV/c(2) and M[h(b)(2P)]=(10,259.8±0.6(-1.0)(+1.4)) MeV/c(2), which correspond to P-wave hyperfine splittings ΔM(HF)=(+1.7±1.5) and (+0.5(-1.2)(+1.6)) MeV/c(2), respectively. The significances of the h(b)(1P) and h(b)(2P) are 5.5σ and 11.2σ, respectively. We find that the production of the h(b)(1P) and h(b)(2P) is not suppressed relative to the production of the Υ(1S), Υ(2S), and Υ(3S).

Evidence for direct CP violation in B±â†’ηh± and observation of B0→ηK0.

We report measurements of the branching fractions and CP asymmetries for B(±)→ηh(±) (h=K or π) and the observation of the decay B(0)→ηK(0) from the final data sample of 772×10(6) B ̅B pairs collected with the Belle detector at the KEKB asymmetric-energy e(+)e(-) collider. The measured branching fractions are B(B(±)→ηK(±))=(2.12±0.23±0.11)×10(-6), B(B(±)→ηπ(±))=(4.07±0.26±0.21)×10(-6), and B(B(0)→ηK(0))=(1.27(-0.29)(+0.33)±0.08)×10(-6), where the last decay is observed for the first time with a significance of 5.4 standard deviations (σ). We also find evidence for CP violation in the charged B modes, A(CP)(B(±)→ηK(±))=-0.38±0.11±0.01 and A(CP)(B(±)→ηπ(±))=-0.19±0.06±0.01 with significances of 3.8 σ and 3.0 σ, respectively. For all measurements, the first and second uncertainties are statistical and systematic, respectively.

Search for CP violation in D± meson decays to ϕπ±.

We search for CP violation in Cabibbo-suppressed charged D meson decays by measuring the difference between the CP-violating asymmetries for the Cabibbo-suppressed decays D(±)→K(+)K(-)π(±) and the Cabibbo-favored decays D(s)(±)→K(+)K(-)π(±) in the K(+)K(-) mass region of the ϕ resonance. Using 955 fb(-1) of data collected with the Belle detector, we obtain A(CP)(D+→ϕπ+)=(+0.51±0.28±0.05)%. The measurement improves the sensitivity of previous searches by more than a factor of 5. We find no evidence for direct CP violation.

Evidence for CP violation in the decay D+ → K(S)(0)π+.

We observe evidence for CP violation in the decay D+ → K(S)(0)π+ using a data sample with an integrated luminosity of 977 fb(-1) collected by the Belle detector at the KEKB e+ e- asymmetric-energy collider. The CP asymmetry in the decay is measured to be (-0.363±0.094±0.067)%, which is 3.2 standard deviations away from zero, and is consistent with the expected CP violation due to the neutral kaon in the final state.